Ricerc@Sapienza

My research goal is elucidating molecular mechanisms that underlie differentiation, development and neurodegeneration, with a particular focus on the role played by non-coding RNAs and RNA-binding proteins. During my PhD at Sapienza University and my post-doc at Rockefeller University (NY, USA), I have studied the function of miRNAs in blood differentiation and embryonic stem cells, respectively. In 2009-2010 was appointed director of the Rockefeller University Stem Cell Derivation Core.

My present research lines are based on induced Pluripotent Stem Cells (iPSCs) for the study of molecular mechanisms underlying neurodegenerative and neurodevelopmental diseases in vitro. iPSCs carrying pathogenic variants were derived from patients or produced by gene editing. We developed methods to differentiate them into relevant cell types, including motor and cortical neurons and skeletal muscle cells. Thus, they represent excellent model systems for the study of the molecular and cellular basis of genetic diseases. In the last years, my laboratory has generated iPSC-based in vitro models of Amyotrophic Lateral Sclerosis (ALS), Fragile X-Syndrome (FXS), and GNAO1 related diseases. We have also set up protocols for differentiating iPSCs in the context of bioprinted models and 3D organoids. We have found that ALS iPSC-derived motor neurons recapitulate disease phenotypes in vitro and reported changes in the transcriptome, miRNA pathway and FUS interactome in ALS motor neurons. Moreover, we have produced a collection of iPSCs carrying pathogenic variants for the neurodevelopmental diseases caused linked to the GNAO1 gene.